Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125180 Individual ID 00102376 Associated disease MDC Phenotype details elevated serum creatine phosphokinase (HP:0003236), Abnormality of the cerebral white matter (HP:0002500) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 00y03m (3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tom Winder Database submission license No license selected Created by Tom Winder Date created 2009-07-17 16:42:46 +02:00 (CEST) Date last edited 2017-10-07 15:14:17 +02:00 (CEST)

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